ArticleBioMed research international2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Article in BioMed research international, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 15 citations in OpenAlex.
- RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.BMC medical genomics · 2025Article
- A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in anBiomedical reports · 2025Article
- Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.Pediatric investigation · 2025Article
- Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.American journal of medical genetics. Part A · 2023Article
- Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.Orphanet journal of rare diseases · 2022Article
- Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.Scientific reports · 2021Article
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.Journal of human genetics · 2019Article
- Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.BMC medical genetics · 2019Article
- Recurrence and Familial Inheritance of IntronicFrontiers in neurology · 2018Article
- Mosaic IntronicFrontiers in genetics · 2018Article
- Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.PLoS genetics · 2017Article
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Authors and funding
17 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder with a high phenotypic variability including mental retardation, developmental delay, and limb malformations. The genetic causes in about 30% of patients with CdLS are still unknown. We report on the functional characterization of two intronic NIPBL mutations in two patients with CdLS that do not affect a conserved splice-donor or acceptor site. Interestingly, mRNA analyses showed aberrantly spliced transcripts missing exon 28 or 37, suggesting the loss of the branch site by the c.5329-15A>G transition and a disruption of the polypyrimidine by the c.6344del(-13)_(-8) deletion. While the loss of exon 28 retains the reading frame of the NIBPL transcript resulting in a shortened protein, the loss of exon 37 shifts the reading frame with the consequence of a premature stop of translation. Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript. Consistent with our results, this patient shows a more severe phenotype compared to the patient with the aberrant transcript that retains its reading frame. Thus, intronic variants identified by sequencing analysis in CdLS diagnostics should carefully be examined before excluding them as nonrelevant to disease.
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